Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy

SEPN1-related myopathy (SEPN1-RM) is a muscle disorder due to mutations of the SEPN1 gene, which is characterized by muscle weakness and fatigue leading to scoliosis and life-threatening respiratory failure. Core lesions, focal areas of mitochondria depletion in skeletal muscle fibers, are the most...

Descripción completa

Detalles Bibliográficos
Autores principales: Filipe, Anne, Chernorudskiy, Alexander, Arbogast, Sandrine, Varone, Ersilia, Villar-Quiles, Rocío-Nur, Pozzer, Diego, Moulin, Maryline, Fumagalli, Stefano, Cabet, Eva, Dudhal, Swati, De Simoni, Maria-Grazia, Denis, Raphaël, Vadrot, Nathalie, Dill, Corinne, Giovarelli, Matteo, Szweda, Luke, De Palma, Clara, Pinton, Paolo, Giorgi, Carlotta, Viscomi, Carlo, Clementi, Emilio, Missiroli, Sonia, Boncompagni, Simona, Zito, Ester, Ferreiro, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7853070/
https://www.ncbi.nlm.nih.gov/pubmed/32661288
http://dx.doi.org/10.1038/s41418-020-0587-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7853070/
https://www.ncbi.nlm.nih.gov/pubmed/32661288
http://dx.doi.org/10.1038/s41418-020-0587-z

Ejemplares similares